Varaico: Literature-Extracted Genetic Variants

PYCR1

131 papers

RefSeq Summary

This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cel...

Pfam Domains

F420_oxidoredaa 2–98UCSCNADP oxidoreductase coenzyme F420-dependent

P5CR_dimeraa 164–268UCSCPyrroline-5-carboxylate reductase dimerisation

Gene Aliases

HGNC Name

pyrroline-5-carboxylate reductase 1

HGNC Alias Symbol

P5C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006907.4

p.E144del1

c.430_431delCTC

Surrounding Variants

1 paper

NM_006907.4

p.D145N

c.433G>A

1 paper

NM_006907.4

p.Q142P

c.425A>C

1 paper

NM_006907.4

p.M149_E150delFs

c.445_448del4

1 paper

NM_006907.4

p.T139M

c.416C>T

1 paper

NM_006907.4

p.L152P

c.455T>C

1 paper

NM_006907.4

p.G138V

c.413G>T

2 papers

NM_006907.4

p.G138D

c.413G>A

1 paper

NM_006907.4

p.T137I

c.410C>T

1 paper

NM_006907.4

p.A136A

c.408C>G

1 paper

NM_006907.4

p.Y135F

c.404A>T

1 paper

NM_006907.4

p.T133P

c.397A>C

1 paper

NM_006907.4

p.T133insFs

c.397_398ins8